"Invitae"[submitter] AND "NAF1"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1337037	NM_138386.3(NAF1):c.1478A>C (p.Tyr493Ser)	NAF1 (Y493S)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 2987097	NM_138386.3(NAF1):c.1476T>C (p.Pro492=)	NAF1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2098256	NM_138386.3(NAF1):c.1442C>T (p.Pro481Leu)	NAF1 (P481L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3014986	NM_138386.3(NAF1):c.1436C>T (p.Pro479Leu)	NAF1 (P479L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2961812	NM_138386.3(NAF1):c.1434T>C (p.Pro478=)	NAF1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2890684	NM_138386.3(NAF1):c.1419C>T (p.Pro473=)	NAF1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2793191	NM_138386.3(NAF1):c.1412C>T (p.Pro471Leu)	NAF1 (P471L)	Single nucleotide variant (intron variant +1 more)	not provided	GUncertain significance
Select item 2782815	NM_138386.3(NAF1):c.1402C>G (p.Leu468Val)	NAF1 (L468V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2150418	NM_138386.3(NAF1):c.1379C>G (p.Pro460Arg)	NAF1 (P460R)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2043821	NM_138386.3(NAF1):c.1375C>T (p.His459Tyr)	NAF1 (H459Y)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1922622	NM_138386.3(NAF1):c.1356T>A (p.Ala452=)	NAF1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1336132	NM_138386.3(NAF1):c.1348G>A (p.Gly450Ser)	NAF1 (G450S)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GBenign
Select item 2979668	NM_138386.3(NAF1):c.1339G>A (p.Val447Ile)	NAF1 (V447I)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2893560	NM_138386.3(NAF1):c.1320C>G (p.Pro440=)	NAF1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2784184	NM_138386.3(NAF1):c.1314T>G (p.Pro438=)	NAF1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2964150	NM_138386.3(NAF1):c.1310G>A (p.Arg437His)	NAF1 (R437H)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2894460	NM_138386.3(NAF1):c.1309C>T (p.Arg437Cys)	NAF1 (R437C)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2731700	NM_138386.3(NAF1):c.1276C>T (p.Leu426Phe)	NAF1 (L426F)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2967546	NM_138386.3(NAF1):c.1262A>G (p.Gln421Arg)	NAF1 (Q421R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2167588	NM_138386.3(NAF1):c.1233T>A (p.Ser411=)	NAF1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2704248	NM_138386.3(NAF1):c.1202T>C (p.Met401Thr)	NAF1 (M401T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2978264	NM_138386.3(NAF1):c.1200T>G (p.His400Gln)	NAF1 (H400Q)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1939874	NM_138386.3(NAF1):c.1187A>G (p.Tyr396Cys)	NAF1 (Y396C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2064251	NM_138386.3(NAF1):c.1163G>A (p.Gly388Asp)	NAF1 (G388D)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2202736	NM_138386.3(NAF1):c.1151G>A (p.Arg384Gln)	NAF1 (R384Q)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2787920	NM_138386.3(NAF1):c.1124G>A (p.Arg375Gln)	NAF1 (R375Q)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1695938	NM_138386.3(NAF1):c.1123C>T (p.Arg375Ter)	NAF1 (R375*)	Single nucleotide variant (nonsense +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2890951	NM_138386.3(NAF1):c.1105C>T (p.Arg369Cys)	NAF1 (R369C)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1945245	NM_138386.3(NAF1):c.1104T>G (p.Tyr368Ter)	NAF1 (Y368*)	Single nucleotide variant (nonsense +1 more)	not provided	GUncertain significance
Select item 2899169	NM_138386.3(NAF1):c.1089G>A (p.Glu363=)	NAF1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2795105	NM_138386.3(NAF1):c.1073A>G (p.His358Arg)	NAF1 (H358R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2066095	NM_138386.3(NAF1):c.1070C>T (p.Ala357Val)	NAF1 (A357V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1909322	NM_138386.3(NAF1):c.1070C>G (p.Ala357Gly)	NAF1 (A357G)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3014135	NM_138386.3(NAF1):c.1051G>A (p.Val351Ile)	NAF1 (V351I)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1946408	NM_138386.3(NAF1):c.1036G>A (p.Glu346Lys)	NAF1 (E346K)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2828902	NM_138386.3(NAF1):c.1033+18A>G	NAF1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3022960	NM_138386.3(NAF1):c.1030C>T (p.Pro344Ser)	NAF1 (P344S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3015396	NM_138386.3(NAF1):c.1025A>G (p.Asn342Ser)	NAF1 (N342S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2695989	NM_138386.3(NAF1):c.986C>A (p.Ser329Tyr)	NAF1 (S329Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2062942	NM_138386.3(NAF1):c.966A>C (p.Glu322Asp)	NAF1 (E322D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2094673	NM_138386.3(NAF1):c.930G>A (p.Glu310=)	NAF1	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1336662	NM_138386.3(NAF1):c.879-7C>G	NAF1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 2958152	NM_138386.3(NAF1):c.878+14C>T	NAF1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2955163	NM_138386.3(NAF1):c.878+11T>C	NAF1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1336410	NM_138386.3(NAF1):c.878+7A>G	NAF1	Single nucleotide variant (intron variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 2024752	NM_138386.3(NAF1):c.857T>C (p.Ile286Thr)	NAF1 (I286T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2001426	NM_138386.3(NAF1):c.784A>G (p.Ile262Val)	NAF1 (I262V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2874606	NM_138386.3(NAF1):c.783C>A (p.His261Gln)	NAF1 (H261Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2732362	NM_138386.3(NAF1):c.764G>A (p.Arg255Gln)	NAF1 (R255Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3018250	NM_138386.3(NAF1):c.763C>T (p.Arg255Trp)	NAF1 (R255W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2755654	NM_138386.3(NAF1):c.744A>G (p.Ala248=)	NAF1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1968004	NM_138386.3(NAF1):c.735A>G (p.Gly245=)	NAF1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2902544	NM_138386.3(NAF1):c.723C>T (p.Phe241=)	NAF1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2761050	NM_138386.3(NAF1):c.718-2A>G	NAF1	Single nucleotide variant (splice acceptor variant)	not provided	GUncertain significance
Select item 2973156	NM_138386.3(NAF1):c.709G>T (p.Ala237Ser)	NAF1 (A237S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2985847	NM_138386.3(NAF1):c.705A>G (p.Gln235=)	NAF1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2805489	NM_138386.3(NAF1):c.656A>G (p.Asn219Ser)	NAF1 (N219S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2022941	NM_138386.3(NAF1):c.653C>G (p.Thr218Ser)	NAF1 (T218S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2749823	NM_138386.3(NAF1):c.644A>C (p.Glu215Ala)	NAF1 (E215A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2786324	NM_138386.3(NAF1):c.635-8T>C	NAF1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2956807	NM_138386.3(NAF1):c.635-14A>G	NAF1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2712772	NM_138386.3(NAF1):c.610G>A (p.Val204Ile)	NAF1 (V204I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2961978	NM_138386.3(NAF1):c.579T>G (p.Pro193=)	NAF1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2037127	NM_138386.3(NAF1):c.576G>A (p.Leu192=)	NAF1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2715500	NM_138386.3(NAF1):c.574C>T (p.Leu192=)	NAF1	Single nucleotide variant (synonymous variant)	NAF1-related condition +1 more	GLikely benign
Select item 2634938	NM_138386.3(NAF1):c.568A>G (p.Ile190Val)	NAF1 (I190V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1902922	NM_138386.3(NAF1):c.540+18T>C	NAF1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1910461	NM_138386.3(NAF1):c.532C>T (p.Leu178Phe)	NAF1 (L178F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2419653	NM_138386.3(NAF1):c.513T>G (p.Leu171=)	NAF1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2878046	NM_138386.3(NAF1):c.502A>G (p.Asn168Asp)	NAF1 (N168D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1221590	NM_138386.3(NAF1):c.484A>G (p.Ile162Val)	NAF1 (I162V)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2751721	NM_138386.3(NAF1):c.482A>G (p.Gln161Arg)	NAF1 (Q161R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1959071	NM_138386.3(NAF1):c.459G>C (p.Leu153=)	NAF1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2045119	NM_138386.3(NAF1):c.439A>G (p.Ile147Val)	NAF1 (I147V)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2162126	NM_138386.3(NAF1):c.426T>G (p.Ser142=)	NAF1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2180941	NM_138386.3(NAF1):c.422C>T (p.Ser141Leu)	NAF1 (S141L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2893271	NM_138386.3(NAF1):c.392C>T (p.Ser131Leu)	NAF1 (S131L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2787102	NM_138386.3(NAF1):c.388A>G (p.Ser130Gly)	NAF1 (S130G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2723660	NM_138386.3(NAF1):c.373G>A (p.Asp125Asn)	NAF1 (D125N)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1902515	NM_138386.3(NAF1):c.366-6C>T	NAF1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1897601	NM_138386.3(NAF1):c.365+20C>T	NAF1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3016024	NM_138386.3(NAF1):c.365+10C>T	NAF1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2139074	NM_138386.3(NAF1):c.365+9C>T	NAF1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2143541	NM_138386.3(NAF1):c.357C>G (p.Asp119Glu)	NAF1 (D119E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2779131	NM_138386.3(NAF1):c.344A>C (p.Asp115Ala)	NAF1 (D115A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1945240	NM_138386.3(NAF1):c.343G>A (p.Asp115Asn)	NAF1 (D115N)	Single nucleotide variant (missense variant)	NAF1-related condition +2 more	GUncertain significance
Select item 3000641	NM_138386.3(NAF1):c.336G>C (p.Glu112Asp)	NAF1 (E112D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2807596	NM_138386.3(NAF1):c.324G>A (p.Pro108=)	NAF1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3015748	NM_138386.3(NAF1):c.313G>T (p.Ala105Ser)	NAF1 (A105S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2917652	NM_138386.3(NAF1):c.311C>T (p.Pro104Leu)	NAF1 (P104L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3014162	NM_138386.3(NAF1):c.304G>A (p.Ala102Thr)	NAF1 (A102T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1984876	NM_138386.3(NAF1):c.304G>T (p.Ala102Ser)	NAF1 (A102S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2049459	NM_138386.3(NAF1):c.303C>T (p.Ala101=)	NAF1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2994773	NM_138386.3(NAF1):c.299G>A (p.Gly100Glu)	NAF1 (G100E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2987474	NM_138386.3(NAF1):c.295C>T (p.Pro99Ser)	NAF1 (P99S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2176512	NM_138386.3(NAF1):c.280G>A (p.Asp94Asn)	NAF1 (D94N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2714904	NM_138386.3(NAF1):c.274T>C (p.Cys92Arg)	NAF1 (C92R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1924782	NM_138386.3(NAF1):c.273C>T (p.Ala91=)	NAF1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2181836	NM_138386.3(NAF1):c.269C>T (p.Pro90Leu)	NAF1 (P90L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1336010	NM_138386.3(NAF1):c.266C>T (p.Ser89Leu)	NAF1 (S89L)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign

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